Frequently asked questions
NIFTY™ is a maternal blood test which is intended to use for the detection Down syndrome and two other chromosomal abnormalities (Edwards syndrome és Patau syndrome) during pregnancy. It is also suitable for the screening of other trisomies, sex chromosomal abnormalities and microdeletion/microdupliation syndromes. The test can be performed after the 10th pregnancy week. 94 types of chromosomal abnormalities can be tested and the sex of the fetus can be also identified.
NIFTY™ test is currently the most up-to-date non-invasive method in the screening of Down syndrome and other chromosomal abnormalities. Non-invasive means that there is no need for obtaining a sample from the cells of the fetus.
Nifty test – and all other similar prenatal genetic tests using maternal blood – is based on the discovery of Dennis Lo, professor of Chinese University in Hong Kong that he made in 1997. Lo discovered that fetal DNA gets into the maternal bloodstream during pregnancy where it can be present up to a 10-15% rate compared to the ratio of maternal DNA.
Currently available molecular genetic methods are able to detect fetal DNA with proper accuracy in maternal blood and the DNA’s qualitative differences from normal values are also detectable. So NIFTY™ test is based on testing fetal DNA that is present in maternal blood.
NIFTY™ test can detect lots of fetal chromosomal abnormalities. The sex of the fetus can also be identified with the test.
Down syndrome is the most widespread abnormalitiy that can be detected with NIFTY™ test. Down syndrome is an abnormality when there are three copies of chromosome 21 present instead of the normal two copies. (In healthy fetuses there are always two copies are present of somatic chromosomes.)
Edwards syndrome and Patau syndrome are also detectable with the test. Edwards syndrome is an abnormality when there are three copies of chromosome 18 present instead of the normal two copies. Patau syndrome is an abnormality when there are three copies of chromosome 13 present instead of the normal two copies.
NIFTY™ test can also detect the numerical abnormalities of sex chromosomes with high chance. Ullrich-Turner syndrome was detected correctly in 95% of the cases. We are currently in the phase of collecting clinical data on the accuracy of detecting other chromosome redundancies or shortages.
Deletion syndromes are also detectable with NIFTY™ test. These are rare genetic abnormalities which are caused by the deletion of a very small segment of a chromosome’s DNA. Abnormalities and symptoms will be present depending on which chromosome is the subject of deletion and how long is the segment that got deleted.
NIFTY™ test is primarily recommended to pregnant women who an above the average risk of Down syndrome and who would like to choose the most accurate test available without invasive screening methods (chorionic villus sampling or amniotic centesis which poses a 0.5-1% miscarriage risk).
NIFTY™ test can also be recommended when combined test suggests the presence of a fetal chromosomal abnormality. Pregnant women will be the subject of genetic counselling in these cases where our physician may recommend performing a NIFTY™ test.
The test can be recommended to every pregnant women who are in the low-risk group but who would like to have a test with a detection accuracy higher than combined test’s 93% accuracy without the need of performing an invasive screening test which poses a risk of miscarriage.
NIFTY™ test is not recommended in rare cases like:
- Maternal, fetal and/or placental mosaicism (a mix of cells containing regular and abnormal chromosomes)
- Maternal chromosomal abnormality, duplication/deletion
- Maternal malignant tumor and/or a metastatic tumor
- Parental balanced/unbalanced translocation, chromosomal inversions
- If the patient was the subject of blood transfusion (in the past year), organ transplant or stem cell therapy
NIFTY test can only be recommended if certain conditions are met in these rare cases:
- Vanishing twin syndrome
- Low molecule weight heparin (LMWH) therapy (Heparine, Clexane, Fraxiparine, Fragmin P)
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If you choose NIFTY™ test we will perform combined test for free if you ask for this test. The blood test results of the combined test are ready in 1.5 hours so we can quickly get a result that detects the presence of Down syndrome with 93% percent accuracy.
If you get a high risk result of some fetal chromosomal abnormality after the performance of combined test then we will not recommend performing NIFTY™ test.
It is also important to know that NIFTY™ test does not replace genetic ultrasound test which is a part of combined test. NIFTY™ test is a blood test for assessing the risk of Down syndrome while the aim of the ultrasound is to detect anatomical abnormalities. Physicians who perform genetic counselling are responsible to decide what diagnostic tests are recommended.
NIFTY™ test can be performed during 10-18 pregnancy weeks.
NIFTY™ test can be performed after the 10th pregnancy week but it is also recommended to perform an ultrasound test, especially in the case of early pregnancies to be able to identify gestational age accurately.
There can be rare cases (in 2% of the time) when the result of NIFTY™ test will be invalid because of the low quantity of fetal DNS in maternal blood. Repeated blood collection can solve this issue.
Since the quantity of fetal DNS increases during the progression of pregnancy, repeated blood collection will be provide a successful test with high probablity.
This is another a reason why we do recommend to perform both the combined test and the NIFTY™ test, because if we also perform the combined test, we will have an initial result what we can rely on in such a case.
Repeating NIFTY™ test is free of charge.
If there is still no valid result after repeating NIFTY™ test then you can request the total refund the test price.
This happens in 0.069% of the tests only, one time from 1450 test.
Yes, with 97-98% accuracy. NIFTY™ test can easily detect the sex of the fetus, except in the case of twin pregnancies.
Since the mother carries two X-chromosomes in her own somatic cells, there are only Y-chromosome parts in her blood originating from the fetus. Y-chromosome parts are only present when the sex of the fetus is male.
If we perform NIFTY™ test in an early pregnancy (10th pregnancy week) then we can share the sex of the fetus with you after the 12th pregnancy week.
Based on the results so far, NIFTY™ test can also be performed in cases of NIFTY™ twin pregnancies when there are only two fetuses are present at the same time. If three or more fetuses are present, then the accuracy of the test cannot be guaranteed.
In cases of multiply pregnancies only the basic panel (detection of Down syndrome, Edwards syndrome, Patau syndrome) is available so we won’t detect deletion and duplication syndromes in these cases.
The reason for this is that NIFTY™ test is a quantitative test based on the higher presence of the surplus fetal chromosome than normal in maternal blood.
In cases of multiply pregnancies the presence of one fetus carrying a trisomy will increase this rate with only a smaller portion which decreases test accuracy.
More information is available at: www.niftytest.com